Tag Archives: raise awareness

Fundraiser for the Morgan Fund

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When?
Saturday March 28, 2015
At 7:00pm

Where?
East Bridgewater Commercial Club
East Bridgewater, MA 02333

Why?
To Help raise awareness about Fibrodysplasia Ossificans Progressiva (FOP)
All Proceeds will benefit the Morgan Fund in Honor of Morgan Lawler.

More Information
This event is for adults.
Tickets are $20.00 per person.
There will be raffle items available.

Donations can be made out to:
The Morgan Fund
P.O. Box 96
East Bridgewater, Ma 02333

Website
Please feel free to invite your friends.
Facebook Page

Rare Disease Day

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Rare Disease Day

Rare Disease Day takes place on the last day of February each year.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.

Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation in a record-breaking 84 countries around the world in 2014. We hope many more will join in 2015. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.

The objective is for the World Health Organization to recognize the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.

On rarediseaseday.org you can find information about the thousands of events happening around the world to build awareness for people living with a rare disease and their families. If you are planning an event, you can register your event details on their Post your Event page to get your event listed on the site.

Lewy Body Dementia

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 Lewy Body Dementia

What Is LBD?

LBD is not a rare disease. It affects an estimated 1.3 million individuals and their families in the United States. Because LBD symptoms can closely resemble other more commonly known diseases like Alzheimer’s and Parkinson’s, it is currently widely underdiagnosed. Many doctors or other medical professionals still are not familiar with LBD.LBD is an umbrella term for two related diagnoses. LBD refers to both Parkinson’s disease dementia and dementia with Lewy bodies. The earliest symptoms of these two diseases differ, but reflect the same underlying biological changes in the brain. Over time, people with both diagnoses will develop very similar cognitive, physical, sleep, and behavioral symptoms.While it may take more than a year or two for enough symptoms to develop for a doctor to diagnose LBD, it is critical to pursue a formal diagnosis. Early diagnosis allows for important early treatment that may extend quality of life and independence.LBD is a multisystem disease and typically requires a comprehensive treatment approach. This approach involves a team of physicians from different specialties who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms. Many people with LBD enjoy significant improvement of their symptoms with a comprehensive approach to treatment, and some can have remarkably little change from year to year.Some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Who was Lewy?
In the early 1900s, while researching Parkinson’s disease, the scientist Friederich H. Lewy discovered abnormal protein deposits that disrupt the brain’s normal functioning. These Lewy body proteins are found in an area of the brain stem where they deplete the neurotransmitter dopamine, causing Parkinsonian symptoms. In Lewy body dementia, these abnormal proteins are diffuse throughout other areas of the brain, including the cerebral cortex. The brain chemical acetylcholine is depleted, causing disruption of perception, thinking and behavior. Lewy body dementia exists either in pure form, or in conjunction with other brain changes, including those typically seen in Alzheimer’s disease and Parkinson’s disease.

Early and accurate diagnosis of LBD, while not always easy to do, is of critical importance for two reasons.

  • First, people with LBD may respond more favorably to certain dementia medications than people with Alzheimer’s, allowing for early treatment that may improve or extend the quality of life for both the person with LBD and their caregiver.
  • Secondly, many people with LBD respond more poorly to certain medications for behavior and movement than people with Alzheimer’s or Parkinson’s, sometimes with dangerous or permanent side effects.

By learning about common forms of dementia, you can help your physician most quickly identify what type of dementia has developed.

Common Forms of Dementia

Alzheimer’s disease symptoms include a progressive loss of recent memory; problems with language, calculation, abstract thinking, and judgment; depression or anxiety; personality and behavioral changes; and disorientation to time and place.

Lewy body dementia (LBD) is an umbrella term for a form of dementia that has three common presentations.

  • Some individuals will start out with a memory or cognitive disorder that may resemble Alzheimer’s disease, but over time two or more distinctive features become apparent leading to the diagnosis of ‘dementia with Lewy bodies’ (DLB). Symptoms that differentiate it from Alzheimer’s include unpredictable levels of cognitive ability, attention or alertness, changes in walking or movement, visual hallucinations, a sleep disorder called REM sleep behavior disorder, in which people physically act out their dreams, and severe sensitivity to medications for hallucinations. In some cases, the sleep disorder can precede the dementia and other symptoms of LBD by decades.
  • Others will start out with a movement disorder leading to the diagnosis of Parkinson’s disease and later develop dementia and other symptoms common in DLB.
  • Lastly, a small group will first present with neuropsychiatric symptoms, which can include hallucinations, behavioral problems, and difficulty with complex mental activities, leading to an initial diagnosis of DLB.

Regardless of the initial symptom, over time all three presentations of LBD will develop very similar cognitive, physical, sleep and behavioral features, all caused by the presence of Lewy bodies throughout the brain.

Vascular dementia is caused by a series of small strokes that deprive the brain of vital oxygen. Symptoms, such as disorientation in familiar locations; walking with rapid, shuffling steps; incontinence; laughing or crying inappropriately; difficulty following instructions; and problems handling money may appear suddenly and worsen with additional strokes. High blood pressure, cigarette smoking, and high cholesterol are some of the risk factors for stroke that may be controlled to prevent vascular dementia.

Frontotemporal dementia (FTD) includes several disorders with a variety of symptoms. The most common signs of FTD include changes in personality and behavior, such as inappropriate or compulsive behavior, euphoria, apathy, decline in personal hygiene, and a lack of awareness concerning these changes. Some forms of FTD involve language and speech symptoms or movement changes.

An experienced clinician within the medical community should perform a diagnostic evaluation. If one is not available, the neurology department of the nearest medical university should be able to recommend appropriate resources or may even provide an experienced diagnostic team skilled in Lewy body dementia.

A thorough dementia diagnostic evaluation includes physical and neurological examinations, patient and family interviews (including a detailed lifestyle and medical history), and neuro-psychological and mental status tests. The patient’s functional ability, attention, language, visuospatial skills, memory and executive functioning are assessed. In addition, brain imaging (CT or MRI scans), blood tests and other laboratory studies may be performed. The evaluation will provide a clinical diagnosis. Currently, a conclusive diagnosis of LBD can be obtained only from a postmortem autopsy for which arrangements should be made in advance. Some research studies may offer brain autopsies as part of their protocols. Participating in research studies is a good way to benefit others with Lewy body dementia.

Medications
Medications are one of the most controversial subjects in dealing with LBD. A medication that doesn’t work for one person may work for another person.

Prescribing should only be done by a physician who is thoroughly knowledgeable about LBD. With new medications and even ‘over-the-counter,’ the patient should be closely monitored. At the first sign of an adverse reaction, consult with the patient’s physician. Consider joining an online caregiver support group to see what others have observed with prescription and over-the-counter medicines.

Risk Factors
Advanced age is considered to be the greatest risk factor for Lewy body dementia, with onset typically, but not always, between the ages of 50 and 85. Some cases have been reported much earlier. It appears to affect slightly more men than women. Having a family member with Lewy body dementia may increase a person’s risk. Observational studies suggest that adopting a healthy lifestyle (exercise, mental stimulation, nutrition) might delay age-associated dementias.

Clinical Trials
The recruitment of LBD patients for participation in clinical trials for studies on LBD, other dementias and Parkinsonian studies is now steadily increasing.

Prognosis and Stages
No cure or definitive treatment for Lewy body dementia has been discovered as yet. The disease has an average duration of 5 to 7 years. It is possible, though, for the time span to be anywhere from 2 to 20 years, depending on several factors, including the person’s overall health, age and severity of symptoms.

Defining the stages of disease progression for LBD is difficult. The symptoms, medicine management and duration of LBD vary greatly from person to person. To further complicate the stages assessment, LBD has a progressive but vacillating clinical course, and one of its defining symptoms is fluctuating levels of cognitive abilities, alertness and attention. Sudden decline is often caused by medications, infections or other compromises to the immune system and usually the person with LBD returns to their baseline upon resolution of the problem.  But for some individuals, it may also be due to the natural course of the disease.

Symptoms

Lewy body dementia symptoms and diagnostic criteria
Every person with LBD is different and will manifest different degrees of the following symptoms. Some will show no signs of certain features, especially in the early stages of the disease. Symptoms may fluctuate as often as moment-to-moment, hour-to-hour or day-to-day. NOTE: Some patients meet the criteria for LBD yet score in the normal range of some cognitive assessment tools. The Mini-Mental State Examination (MMSE), for example, cannot be relied upon to distinguish LBD from other common syndromes.

LBD is a an umbrella term for two related clinical diagnoses, dementia with Lewy bodies and Parkinson’s disease dementia.

The latest clinical diagnostic criteria for dementia with Lewy bodies (DLB) categorizes symptoms into three types, listed below.  A diagnosis of Parkinsons’ disease dementia (PDD) requires a well established diagnosis of Parkinson’s disease that later progresses into dementia, along with very similar features to DLB.  A rather arbirary time cutoff was established to differentiate between DLB and PDD.  People whose dementia occurs before or within 1 year of Parkinson’s symptoms are diagnosed with DLB.  People who have an existing diagnosis of Parkinson’s for more than a year and later develop dementia are diagnosed with PDD.

Central feature

  • Progressive dementia – deficits in attention and executive function are typical. Prominent memory impairment may not be evident in the early stages.

Core features

  • Fluctuating cognition with pronounced variations in attention and alertness.
  • Recurrent complex visual hallucinations, typically well formed and detailed.
  • Spontaneous features of parkinsonism.

Suggestive features

  • REM sleep behavior disorder (RBD), which can appear years before the onset of dementia and parkinsonism.
  • Severe sensitivity to neuroleptics occurs in up to 50% of LBD patients who take them.
  • Low dopamine transporter uptake in the brain’s basal ganglia as seen on SPECT and PET imaging scans. (These scans are not yet available outside of research settings.)

Supportive features

  • Repeated falls and syncope (fainting).
  • Transient, unexplained loss of consciousness.
  • Autonomic dysfunction.
  • Hallucinations of other senses, like touch or hearing.
  • Visuospatial abnormalities.
  • Other psychiatric disturbances.

A clinical diagnosis of LBD can be probable or possible based on different symptom combinations.

A probable LBD diagnosis requires either:

  • Dementia plus two or more core features, or
  • Dementia plus one core feature and one or more suggestive features.

A possible LBD diagnosis requires:

  • Dementia plus one core feature, or
  • Dementia plus one or more suggestive features.

Symptoms Explained
In this section we’ll discuss each of the symptoms, starting with the key word: dementia. Dementia is a process whereby the person becomes progressively confused. The earliest signs are usually memory problems, changes in their way of speaking, such as forgetting words, and personality problems. Cognitive symptoms of dementia include poor problem solving, difficulty with learning new skills and impaired decision making.

Other causes of dementia should be ruled out first, such as alcoholism, overuse of medication, thyroid or metabolic problems. Strokes can also cause dementia. If these reasons are ruled out then the person is said to have a degenerative dementia. Lewy Body Dementia is second only to Alzheimer’s disease as the most common form of dementia.

Fluctuations in cognition will be noticeable to those who are close to the person with LBD, such as their partner. At times the person will be alert and then suddenly have acute episodes of confusion. These may last hours or days. Because of these fluctuations, it is not uncommon for it to be thought that the person is “faking”. This fluctuation is not related to the well-known “sundowning” of Alzheimer’s. In other words, there is no specific time of day when confusion can be seen to occur.

Hallucinations are usually, but not always, visual and often are more pronounced when the person is most confused. They are not necessarily frightening to the person. Other modalities of hallucinations include sound, taste, smell, and touch.

Parkinsonism or Parkinson’s Disease symptoms, take the form of changes in gait; the person may shuffle or walk stiffly. There may also be frequent falls. Body stiffness in the arms or legs, or tremors may also occur. Parkinson’s mask (blank stare, emotionless look on face), stooped posture, drooling and runny nose may be present.

REM Sleep Behavior Disorder (RBD) is often noted in persons with Lewy Body Dementia. During periods of REM sleep, the person will move, gesture and/or speak. There may be more pronounced confusion between the dream and waking reality when the person awakens. RBD may actually be the earliest symptom of LBD in some patients, and is now considered a significant risk factor for developing LBD. (One recent study found that nearly two-thirds of patients diagnosed with RBD developed degenerative brain diseases, including Lewy body dementia, Parkinson’s disease, and multiple system atrophy, after an average of 11 years of receiving an RBD diagnosis. All three diseases are called synucleinopathies, due to the presence of a mis-folded protein in the brain called alpha-synuclein.)

Sensitivity to neuroleptic (anti-psychotic) drugs is another significant symptom that may occur. These medications can worsen the Parkinsonism and/or decrease the cognition and/or increase the hallucinations. Neuroleptic Malignancy Syndrome, a life-threatening illness, has been reported in persons with Lewy Body Dementia. For this reason, it is very important that the proper diagnosis is made and that healthcare providers are educated about the disease.

Other Symptoms
Visuospatial difficulties, including depth perception, object orientation, directional sense and illusions may occur.

Autonomic dysfunction, including blood pressure fluctuations (e.g. postural/orthostatic hypotension) heart rate variability (HRV), sexual disturbances/impotence, constipation, urinary problems, hyperhidrosis (excessive sweating), decreased sweating/heat intolerance, syncope (fainting), dry eyes/mouth, and difficulty swallowing which may lead to aspiration pneumonia.

Other psychiatric disturbances may include systematized delusions, aggression and depression. The onset of aggression in LBD may have a variety of causes, including infections (e.g., UTI), medications, misinterpretation of the environment or personal interactions, and the natural progression of the disease.

Treatment Options

LBD is a multi-system disease and typically requires a comprehensive treatment approach, meaning a team of physicians from different specialties, who collaborate to provide optimum treatment of each symptom without worsening other LBD symptoms.  It is important to remember that some people with LBD are extremely sensitive or may react negatively to certain medications used to treat Alzheimer’s or Parkinson’s in addition to certain over-the-counter medications.

Cognitive Symptoms
Medications called cholinesterase inhibitors are considered the standard treatment for cognitive symptoms in LBD. These medications were developed to treat Alzheimer’s disease. However, some researchers believe that people with LBD may be even more responsive to these types of medications than those with Alzheimer’s.

Movement Symptoms
Movement symptoms may be treated with a Parkinson’s medication called levodopa, but if the symptoms are mild, it may be best to not treat them in order to avoid potential medication side-effects.

Visual Hallucinations
If hallucinations are disruptive or upsetting, your physician may recommend a cautious trial of a newer antipsychotic medication. (Please see WARNING below.)  Of note, the dementia medications called cholinesterase inhibitors have also been shown to be effective in treating hallucinations and other psychiatric symptoms of LBD.

REM Sleep Behavior Disorder (RBD)
RBD can be quite responsive to treatment, so your physician may recommend a medication like melatonin and/or clonazepam.

Neuroleptic Sensitivity
Severe sensitivity to neuroleptics is common in LBD. Neuroleptics, also known as antipsychotics, are medications used to treat hallucinations or other serious mental disorders. While traditional antipsychotic medications (e.g. haloperidol) are commonly prescribed for individuals with Alzheimer’s with disruptive behavior, these medications can affect the brain of an individual with LBD differently, sometimes causing severe side effects (see below). For this reason, traditional antipsychotic medications like haloperidol should be avoided. Some newer ‘atypical’ antipsychotic medications like risperidone may also be problematic for someone with LBD. Quetiapine is preferred by some LBD experts. If quetiapine is not tolerated or is not helpful, clozapine should be considered, but requires ongoing blood tests to assure a rare but serious blood condition does not develop. Hallucinations must be treated very conservatively, using the lowest doses possible under careful observation for side effects.

WARNING:
Up to 50% of patients with LBD who are treated with any antipsychotic medication may experience severe neuroleptic sensitivity, such as worsening cognition, heavy sedation, increased or possibly irreversible parkinsonism, or symptoms resembling neuroleptic malignant syndrome (NMS), which can be fatal. (NMS causes severe fever, muscle rigidity and breakdown that can lead to kidney failure.)

Medication Side Effects
Speak with your doctor about possible side effects. The following drugs may cause sedation, motor impairment or confusion:

  • Benzodiazepines, tranquilizers like diazepam and lorazepam
  • Anticholinergics (antispasmodics), such as oxybutynin and glycopyrrolate
  • Some surgical anesthetics
  • Older antidepressants
  • Certain over-the-counter medications, including diphenhydramine and dimenhydrinate.
  • Some medications, like anticholinergics, amantadine and dopamine agonists, which help relieve parkinsonian symptoms, might increase confusion, delusions or hallucinations.

NOTE: Be sure to meet with your anesthesiologist in advance of any surgery to discuss medication sensitivities and risks unique to LBD. People with LBD often respond to certain anesthetics and surgery with acute states of confusion or delirium and may have a sudden significant drop in functional abilities, which may or may not be permanent.

Possible alternatives to general anesthesia include a spinal or regional block. These methods are less likely to result in postoperative confusion. If you are told to stop taking all medications prior to surgery, consult with your doctor to develop a plan for careful withdrawal.

Non-Medical Treatments

Physical therapy options include cardiovascular, strengthening, and flexibility exercises, as well as gait training. Physicians may also recommend general physical fitness programs such as aerobic, strengthening, or water exercise.

Speech therapy may be helpful for low voice volume and poor enunciation. Speech therapy may also improve muscular strength and swallowing difficulties.

Occupational therapy may help maintain skills and promote function and independence. In addition to these forms of therapy and treatment, music and aroma therapy can also reduce anxiety and improve mood.

Individual and family psychotherapy can be useful for learning strategies to manage emotional and behavioral symptoms and to help make plans that address individual and family concerns about the future.

Support groups may be helpful for caregivers and persons with LBD to identify practical solutions to day-to-day frustrations, and to obtain emotional support from others.

End-of-Life
Planning for the end of life can be a valuable activity for any family. The links below offer general guidance and some specific suggestions for families who face the burden of a disease such as Lewy body dementia.

Advanced Directives – a Caring Connections site with state-specific advanced directives

Caring Connections – home page of consumer Web site about hospice and palliative care managed by the National Hospice and Palliative Care Organization

Palliative Doctors – a Web site for consumers managed by the American Academy of Hospice and Palliative Care about palliative care

Ice Bucket Challenge: Raising Money and Awareness for ALS

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Perhaps you’ve seen it online, on your Facebook feed, or across popular morning shows in recent days – the ice bucket challenge! Individuals are taking to media, volunteering to have buckets of ice water poured over their heads to raise money and awareness for ALS, also known as Lou Gehrig’s Disease.

What is ALS?
ALS stands for Amyotrophic Lateral Sclerosis (ALS), but is more commonly referred to as “Lou Gehrig’s Disease.” The disease is characterized by the ALS Association as neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Individuals living with ALS suffer from degenerative loss of motor skills, muscle loss, and can even lead to total paralysis.

Some early symptoms can include increasing muscle weakness, especially in the arms and legs, and loss of speech, difficulty swallowing or breathing. Learn more about the disease at www.alsa.org.

While there is currently no cure for ALS, the disease is 100% fatal. There is currently one medication and others in trial period that offer hope to those living with the disease and help slow down symptoms.

Who started the Ice Bucket Challenge?
The ice bucket challenge campaign was started by Pat Quinn, who became an ALS ambassador after being diagnosed with the disease himself. He got the idea from other similar “challenges” that people were doing and then posting online and recognized the power social media could have in spreading awareness and raising money for those living with the disease every day.

Since he kicked off the campaign, celebrities like Justin Timberlake, the cast of Good Morning America, Michael Strahan, Josh Ramsay, the Patriots and others have been challenging each other to “take the plunge” and spread the news.

How is the challenge impacting the Disability community?
Thanks to the ice bucket challenge, the ALS Association has reportedly received $4 million in donations between July 29 and August 12 and have welcomed more than 70,000 new donors! Contributions will go towards finding a cure for ALS while funding the highest quality of care for people living with the disease.

The ALS community is hoping the increased awareness and funds could lead to a new breakthrough in fighting for the cause. Even those who are not able to donate have helped raise awareness which could potentially help groups like the ALS Association expedite the extensive collaboration required between individuals, medical institutions, and testing labs which could help lead to a potential cure for the disease and help improve the quality of life for those living with it.